rs61495246

This is a variant in the CYP2R1 gene that changes a leucine to an proline.

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ClinVar annotation

Pathogenic★★★☆
14 submitters9 publications

CYP2R1-related disorder; Vitamin D hydroxylation-deficient rickets, type 1B; Vitamin D-dependent rickets, type 1 (VDD1)

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Research that mentions this SNP (1)

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Genetic sequence variants in vitamin D metabolism pathway genes, serum vitamin D level and outcome in head and neck cancer patients
AssociationN=522Abul Kalam Azad et al.(2013)· International Journal of Cancer

This study examined 89 genetic sequence variants in six vitamin D metabolism pathway genes (VDR, GC, CYP24A1, CYP27A1, CYP27B1, CYP2R1) in 522 early-stage head and neck cancer patients to assess associations with overall survival and second primary cancer risk. GC rs4588 and CYP2R1 rs10500804 were associated with lower serum vitamin D levels. CYP24A1 rs2296241 (aHR 1.23, p=0.05) was significantly associated with worse overall survival, while CYP2R1 rs1993116 (aHR 0.59, p=0.001) was protective against second primary cancer, independent of serum vitamin D levels.

Traits studied:Head and neck cancerOverall survivalSecond primary cancerSerum vitamin D level
PubMedDOIMetascience Observatory

About CYP2R1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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